Waardenburg syndrome causes changes to your hair, skin and eye color (pigmentation). These changes include: Pale, blue eye color.
Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye.
As with WS1, Waardenburg syndrome type III (WS3) may result from certain mutations of the PAX3 gene that may be inherited as an autosomal dominant trait or occur sporadically. In addition, some investigators suggest that WS3 may sometimes result from mutations of the PAX3 gene of both chromosomes (homozygosity).
Waardenburg syndrome type 1
The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1.
Summary. Jacobsen syndrome is a condition characterized by the deletion of several genes on chromosome 11. Signs and symptoms vary among affected people but often include Paris-Trousseau syndrome (a bleeding disorder); distinctive facial features; delayed development of motor skills and speech; and cognitive impairment ...
What is Noonan syndrome? Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan syndrome have normal intelligence, but some may have special educational needs or intellectual disability.
There are four main types of Waardenburg syndrome. The most common are type I and type II. Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are rarer. The multiple types of this syndrome result from defects in different genes.
Paris Jackson's blue eyes are due to an unnamed eye condition, which could possibly be Waardenburg syndrome. Although Baker doesn't name the condition, she does note that it doesn't impact Jackson's eyesight.
How Rare Are Blue Eyes? About 27% of the United States population has blue eyes, according to a 2014 poll by the American Academy of Ophthalmology. Blue eyes may not be the rarest eye color, but they aren't the most common one, either.
Summary. Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms.
What is the rarest eye color? Green is the rarest eye color in the world, with only 2% of the world's population (and fewer than one out of ten Americans) sporting green peepers, according to the American Academy of Ophthalmology (AAO).
Symptoms of Prader-Willi syndrome
Around half of all children with Prader-Willi syndrome will have fair skin, blonde hair and blue eyes, regardless of what their family members look like.
Children with Waardenburg syndrome have a normal life expectancy. Morbidity is related to deafness and to defects of neural crest-derived tissues, including mental retardation, seizures, psychiatric disorders, skeletal anomalies, and eye disorders (including cataracts).
Patch of white hair, usually above your forehead (forelock). Hair turns gray at a young age. Light patches of skin (congenital leukoderma) that aren't the same color as the rest of your body.
The absence of differences in the IQ level of deaf people with Waardenburg syndrome is due to the mental state variable in favor of the deaf group of those with the borderline between Gifted and Superior, but the overall IQ level of the deaf person with Waardenburg syndrome is within the lower limits (IQ = 71), which ...
Waardenburg syndrome (WS) is the most common form of syndromic deafness with phenotypic and genetic heterogeneity in the Chinese population. This study aimed to clarify the clinical characteristics and the genetic cause in eight Chinese WS families (including three familial and five sporadic cases).
Hearing loss in Waardenburg syndrome can be unilateral or bilateral, progressive or stable, and of variable severity. There can exist various inner ear malformations as well as microscopic abnormalities, including abnormal organ of Corti and cochlear spiral ganglion.
The symptoms of Waardenburg syndrome vary depending on the type. Across types, most people have: changes in vision.
Mutations in both copies of this gene have not been found in those with Waardenburg syndrome type 2 since. Type 2E was first established in 1996 when a study identified a girl with symptoms of Waardenburg syndrome type 2 but with additional underdevelopment of the front of the eye, leading to blindness.
Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia.
Hallermann-Streiff syndrome (HSS) is a very rare genetic disorder that has a characteristic facial appearance, dental abnormalities, hypotrichosis, skin atrophy, proportionate short stature, and ophthalmic features including microphthalmia and congenital bilateral cataracts.
Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 (del(4p16. 3)). Features include a distinct craniofacial phenotype and intellectual disability.